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[A difficult cytogenetic diagnosis of 4p monosomy]
G Vittu1, M F Croquette, F Boidein
1Clinique médicale infantile et des maladies infectieuses de la Faculté Libre, Hôpital Saint-Antoine, Lille.
Journal De Genetique Humaine
|January 1, 1988
Abstract:
Monosomy 4p is rare; cytogenetic diagnosis is difficult when it is not oriented by clinical signs such as severe hypotonia, profound encephalopathy and dysmorphism ("casque de guerrier grec"). Parenteral karyotype is indispensable in case of translocation.